Updated: Jan 24
In 2003, about 3 billion base pairs of the human genome were sequenced, marking not only the completion of the Human Genome Project, but the beginning of the rapid development of gene technology . Treatments for hereditary disorders, faster, accurate medical diagnosis, personalization of drug treatments: genetic testing has opened numerous possibilities for the future of medicine . But as its advancement speeds ahead, genetic testing currently lacks effective healthcare policies addressing various issues, inhibiting the utilization of the potential of genetic testing for the healthcare of millions of Americans.
The federal agencies responsible for regulating genetic testing i.e. the Center for Medicare and Medicaid Services (CMS) and the Food and Drug Administration (FDA) have failed to develop adequate policies to evaluate genetic tests. Three main criteria determine a genetic test’s robustness: analytical validity, clinical validity, and clinical utility. Analytical validity refers to the test’s ability to detect specific genes or genetic changes, while clinical validity refers to the relation of the genetic variant analyzed by the test to the risk of a certain illness . Clinical utility refers to the utility of information provided by the test about diagnosis, treatment, or prevention of a specific disease [3, 4]. The regulatory agencies need to come up with a better framework to incorporate these criteria synergistically.
Clinical laboratories performing genetic testing are subject to CMS regulation processes established by the Clinical Laboratory Improvement Amendments (CLIA) . While CLIA aims to test analytical validity through evaluating test procedures and laboratory personnel qualifications, it does not require testing for clinical validity or utility. In 2010, the FDA announced they would take responsibility for regulation of all genetic tests to resolve CMS’ management issues, yet its plans for expanded regulation have not been executed ever since.
As for the FDA, it implements a policy called enforcement discretion, allowing them to select certain genetic tests to regulate . While tests marketed as a commercial test kit undergo FDA regulation, laboratory-developed tests (LDTs) are subject to FDA’s enforcement discretion, resulting in their usage without analysis for analytical or clinical validity. Throughout the decades of the genetic revolution, FDA has drafted new guidelines for genetic testing, addressing concerns for LDT regulations. Although these drafts have provided a framework for other agencies to follow, they have not been implemented in practice.
Improper assessment of genetic testing from both the CMS and FDA has only exacerbated the issue of genetic testing validity. Numerous invalid genetic tests continually lead to misdiagnoses and inappropriate treatment. This, in turn, causes immense stress for Americans, putting their mental health at risk. It is not enough that federal agencies simply propose plans of action to fix genetic testing regulation; they must implement them to bring about meaningful change.
In addition to genetic testing facing a serious issue with federal regulation, it also opens up risks to patient privacy violations and genetic discrimination in clinical settings. As genetic testing becomes more common in clinics, so does the potential dangers of genetic information misuse. Additionally, clinical genetic research regarding identifiable populations may lead to stigmatization of certain groups . To prevent this, the government has passed the Genetic Information Nondiscrimination Act (GINA), which restricts health insurance issuers and employers from accessing individuals’ genetic information, and the Health Insurance Portability and Accountability Act (HIPAA), which categorizes genetic information as protected health information that remains confidential to health insurance companies . Although these laws aim to protect patient’s privacy and genetic discrimination, they fall short in many cases. For example, GINA cannot be applied to employers with less than 15 employees, and it cannot be applied to specific types of health insurance like life, disability, and long-term care .
But the issue of patient privacy has begun to find itself more severe outside clinical settings. Direct-to-consumer (DTC) genetic tests, tests that consumers buy and self-administer to identify traits such as ancestry and risk of disease, have become popular over the past years [6, 8]. As of January 2019, more than 26 million people have taken a DTC test . Unfortunately, FDA’s limited regulation of genetic tests include DTC tests, allowing various DTC test companies like 23andMe and Ancestry to collect genomic data of its customers without informed consent of data breach risks and data misuse.  In addition, these companies may use third party services to interpret genetic information, further placing customer privacy in danger. In addition, DTC genetic testing companies are either excluded from federal laws or subject to poorly enforced policies regarding genetic data privacy. While the HIPAA disregards DTC testing companies entirely, the Common Rule, another federal law that protects individuals’ privacy over genetic information, does not address the issue of informed consent by DTC genetic testing companies . With the lack of federal oversight, DTC testing companies can continue to exploit the genetic data of uninformed customers.
Since the Human Genome Project and the advancements of genetics in medicine, healthcare issues regarding genetic testing have been addressed but remain unresolved. The lack of regulation, the disregard of patient privacy, and the presence of genetic discrimination all point to how the health of America is treated as insignficant. The government needs to decide what is more important: a rapidly growing industry of genetic technology or the rights to privacy and wellbeing of all American patients.
Human genome project results. Genome.gov. (n.d.). Retrieved November 14, 2021, from https://www.genome.gov/human-genome-project/results.
Ojha, R. P., & Thertulien, R. (2005, March). Health care policy issues as a result of the Genetic Revolution: Implications for Public Health. American journal of public health. Retrieved November 14, 2021, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1449188/.
Regulation of genetic tests. Genome.gov. (n.d.). Retrieved November 14, 2021, from https://www.genome.gov/about-genomics/policy-issues/Regulation-of-Genetic-Tests.
U.S. National Library of Medicine. (2021, July 28). How can I be sure a genetic test is valid and useful?: Medlineplus Genetics. MedlinePlus. Retrieved November 14, 2021, from https://medlineplus.gov/genetics/understanding/testing/validtest/.
Diagnostic tests not reviewed by FDA present growing risks to patients. The Pew Charitable Trusts. (n.d.). Retrieved November 14, 2021, from https://www.pewtrusts.org/en/research-and-analysis/fact-sheets/2021/10/diagnostic-tests-not-reviewed-by-fda-present-growing-risks-to-patients.
Privacy in Genomics. Genome.gov. (n.d.). Retrieved November 14, 2021, from https://www.genome.gov/about-genomics/policy-issues/Privacy#laws-regs.
U.S. National Library of Medicine. (2021, July 28). What is genetic discrimination?: Medlineplus Genetics. MedlinePlus. Retrieved November 14, 2021, from https://medlineplus.gov/genetics/understanding/testing/discrimination/.
The Regulatory Review. (2021, August 6). Privacy problems in the genetic testing industry. The Regulatory Review. Retrieved November 14, 2021, from https://www.theregreview.org/2021/01/23/saturday-seminar-privacy-problems-genetic-testing/.